Activity
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12 actions
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| Childhood solid tumours v5.6 | ERCC1 | Arina Puzriakova Classified gene: ERCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v5.6 | ERCC1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 4 individuals from 3 families with childhood-onset hepatocellular carcinoma due to biallelic variants in this gene. Diagnosis may have treatment implications due to heightened sensitivity of individuals with ERCC1 variants to DNA-damaging agents. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v5.6 | ERCC1 | Arina Puzriakova Gene: ercc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v5.5 | ERCC1 | Arina Puzriakova Publications for gene: ERCC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v5.4 | ERCC1 |
Arina Puzriakova Tag dd_review tag was added to gene: ERCC1. Tag Q3_25_promote_green tag was added to gene: ERCC1. |
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| Childhood solid tumours v5.4 | ERCC1 | Arina Puzriakova reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40684071; Phenotypes: xeroderma pigmentosum, MONDO:0019600, hepatorenal syndrome, MONDO:0001382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v5.4 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from xeroderma pigmentosum, MONDO:0019600 to xeroderma pigmentosum, MONDO:0019600; hepatorenal syndrome, MONDO:0001382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v5.3 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa to xeroderma pigmentosum, MONDO:0019600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v5.2 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 to Xeroderma Pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.26 | ERCC1 |
Ivone Leong Source NHS GMS was added to ERCC1. Source Expert Review Amber was added to ERCC1. Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 for gene: ERCC1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Childhood solid tumours v1.23 | ERCC1 | Lara Hawkes reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.22 | ERCC1 |
Ivone Leong gene: ERCC1 was added gene: ERCC1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: ERCC1 was set to |
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